Korean J Urol.  1986 Dec;27(6):955-957.

A Case of Hypospadias with a Chromosomal Abnormality

Affiliations
  • 1Kyung Hee University, Seoul, Korea.

Abstract

XO/XY mosaicism is frequently observed in the most patients with mixed gonadal dysgenesis. Mixed gonadal dysgenesis is a condition of Intersexuality characterized by asymmetric gonads or ambiguous genitalia or both. The external genitalia are always masculinized to some extent, on occasion represent a hypospadias as a common genetic form of a mixed gonadal dysgenesis. The disorder probably results from a cytogenic error that occurs early in embryogenesis. Phenotypic males with mixed gonadal dysgenesis have a high risk of developing gonadal tumors. We describe a case of hypospadias with a unilateral testis and XO/XY chromosome complement that is considered as a mixed gonadal dysgenesis.

Keyword

hypospadias; chromosomal abnormality
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